| | | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007190, LOC130007191 +698 more | Copy number gain | See cases | |
| | LOC130007275, LOC130007276 +97 more | Copy number loss | See cases | |
| | | Deletion (5 prime UTR variant +1 more) | C12orf57-related disorder | |
| | | Single nucleotide variant (splice donor variant) | C12orf57-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aicardi-Goutieres syndrome 9 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aicardi-Goutieres syndrome 9 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aicardi-Goutieres syndrome 9 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aicardi-Goutieres syndrome 9 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aicardi-Goutieres syndrome 9 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aicardi-Goutieres syndrome 9 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Deletion (5 prime UTR variant +2 more) | C12orf57-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +4 more) | Temtamy syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +4 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +4 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (nonsense +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Duplication (frameshift variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Duplication (frameshift variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (synonymous variant +3 more) | Temtamy syndrome | |
| | | Single nucleotide variant (nonsense +3 more) | Temtamy syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Temtamy syndrome | |